Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

• Published in: International journal of molecular sciences Vol. 19; no. 10; p. 3203
• Main Authors: Vorselaars, Veronique M M, Hosman, Anna E, Westermann, Cornelis J J, Snijder, Repke J, Mager, Johannes J, Goumans, Marie-Jose, Post, Marco C
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI 17-10-2018; MDPI AG
• Subjects: ACVRL1; ENG; Familial Primary Pulmonary Hypertension - complications; Familial Primary Pulmonary Hypertension - diagnosis; Familial Primary Pulmonary Hypertension - genetics; Familial Primary Pulmonary Hypertension - therapy; Hemodynamics; hereditary haemorrhagic telangiectasia; Humans; Inheritance Patterns - genetics; pulmonary arterial hypertension; pulmonary hypertension; Review; Telangiectasia, Hereditary Hemorrhagic - complications; Telangiectasia, Hereditary Hemorrhagic - genetics; ACVRL1; hereditary haemorrhagic telangiectasia; pulmonary arterial hypertension; pulmonary hypertension; ENG
• ISSN: 1422-0067; 1422-0067
• DOI: 10.3390/ijms19103203

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of genetic mutations in
and
encoding for proteins involved in the transforming growth factor-beta (TGF-β) superfamily, a signalling pathway that is essential for angiogenesis. Changes within this pathway can lead to both the proliferative vasculopathy of HPAH and arteriovenous malformations seen in HHT. Clinical signs of the disease combination may not be specific but early diagnosis is important for appropriate treatment. This review describes the molecular mechanism and management of HPAH and HHT.